Varaico: Literature-Extracted Genetic Variants

Gene:LRRC7
Variant:p.E502K

LRRC7

82 papers

Pfam Domains

LRR_8aa 84–142UCSCLeucine rich repeat
LRR_14aa 159–242UCSCLeucine-rich repeat region
LRR_14aa 229–336UCSCLeucine-rich repeat region
LRR_8aa 350–407UCSCLeucine rich repeat
PDZaa 1406–1490UCSCPDZ domain

Gene Aliases

HGNC Name

leucine rich repeat containing 7

HGNC Alias Symbols

KIAA1365; densin-180

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370785.2
p.E502K
c.1504G>A
Surrounding Variants
1 paper
NM_001370785.2
p.W487*
c.1460G>A
1 paper
NM_001370785.2
p.E575K
c.1723G>A
1 paper
NM_001370785.2
p.R458_T461del4
c.1372_1382del12
1 paper
NM_001370785.2
p.E454G
c.1361A>G
1 paper
NM_001370785.2
p.T426A
c.1276A>G
1 paper
NM_001370785.2
p.Y610S
c.1829A>C
1 paper
NM_001370785.2
p.K615T
c.1844A>C
1 paper
NM_001370785.2
p.V632M
c.1894G>A
1 paper
NM_001370785.2
p.E635_N636delFs
c.1903_1907del5
1 paper
NM_001370785.2
p.Y651insFs
c.1951_1952insC
1 paper
NM_001370785.2
p.E665K
c.1993G>A
1 paper
NM_001370785.2
p.E665_D666Splc
c.1995+1G>A
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